NF1 c.2393A>G ;(p.K798R)

Variant ID: 17-29554608-A-G

NM_001042492.2(NF1):c.2393A>G;(p.K798R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: NF1: 2393A>G; Lys798Arg
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 2393A>G
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



Hormone-induced repression of genes requires BRG1-mediated H1.2 deposition at target promoters.

The Embo Journal
Nacht, Ana Silvina AS; Pohl, Andy A; Zaurin, Roser R; Soronellas, Daniel D; Quilez, Javier J; Sharma, Priyanka P; Wright, Roni H RH; Beato, Miguel M; Vicent, Guillermo P GP
Publication Date: 2016-08-15

Variant appearance in text: NF1: K798R
PubMed Link: 27390128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromatin remodeling during glucocorticoid receptor regulated transactivation.

Biochimica Et Biophysica Acta
King, Heather A HA; Trotter, Kevin W KW; Archer, Trevor K TK
Publication Date: 2012-07

Variant appearance in text: NF1: K798R
PubMed Link: 22425674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reconstitution of glucocorticoid receptor-dependent transcription in vivo.

Molecular And Cellular Biology
Trotter, Kevin W KW; Archer, Trevor K TK
Publication Date: 2004-04

Variant appearance in text: NF1: K798R
PubMed Link: 15060156
Variant Present in the following documents:
  • Main text
View BVdb publication page